Papers matching “intellectual disability” in Genomic variations and chromosomal abnormalities 6
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The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients2023 Clinical Dysmorphology article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Rebecca L. Poole, Emilia K. Bijlsma, Gunnar Houge, Gabriela E. Jones, Violeta Mikštienė, Eglė Preikšaitienė, +1 more
5citations -
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile2024 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Dmitrijs Rots, Kathleen Rooney, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Rolph Pfundt, +18 more
7citations -
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy2024 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Pleuntje J. van der Sluijs, Sébastien Moutton, Alexander J.M. Dingemans, Denisa Weis, Michael A. Levy, Kym M. Boycott, +39 more
6citations -
Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt2023 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Elise Pelgrims, Sally Ann Lynch, Laurens Hannes, Mariëtte J.V. Hoffer, Cindy Melotte, Arie van Haeringen, +2 more
1citations -
1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans2021 preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Ida Elken Sønderby, Dennis van der Meer, Clara A. Moreau, Tobias Kaufmann, G. Bragi Walters, Maria Ellegaard, +89 more
1citations -
Proximal Deletions of 14q32.2 Result in Severe Neurodevelopmental Outcomes, Congenital Anomalies, and Dysmorphic Features2025 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Jennifer Black, Robert Roger Lebel, Ria Garg, Maayke A. de Koning, Claudia A. L. Ruivenkamp, Himanshu Goel, +1 more
1citations
6 results